M93I (p.Met93Ile) variant of GJB2 (Gap junction beta-2 protein)
M93I (p.Met93Ile) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rare genetic deafness; Mutilating keratoderma; Ichthyosis, hystrix-like, with he. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
M93I (p.Met93Ile) variant details
- p.Met93Ile
- rs397516871
- cosmic curated COSV67010
- ClinGen CA134957
- ClinVar RCV000037832
- Likely pathogenic
- Rare genetic deafness; Mutilating keratoderma; Ichthyosis, hystrix-like, with he
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.87
- MetaLR 0.96
- MetaSVM 1.09
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: GJB2 mutations: passage through Iran. (PMID 15666300)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)